U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Carbohydrate metabolism disease

MedGen UID:
472889
Concept ID:
C0149670
Disease or Syndrome
Synonym: Disorder of carbohydrate metabolism
SNOMED CT: Disorder of carbohydrate metabolism (20957000)
 
Monarch Initiative: MONDO:0037792

Definition

An inherited or acquired disorder that affects the metabolism of the carbohydrates. Representative examples include diabetes mellitus, glycogen storage disease, mucopolysaccharidoses, and lactose intolerance. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Carbohydrate metabolism disease in Orphanet.

Professional guidelines

PubMed

Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Wharton S, Lau DCW, Vallis M, Sharma AM, Biertho L, Campbell-Scherer D, Adamo K, Alberga A, Bell R, Boulé N, Boyling E, Brown J, Calam B, Clarke C, Crowshoe L, Divalentino D, Forhan M, Freedhoff Y, Gagner M, Glazer S, Grand C, Green M, Hahn M, Hawa R, Henderson R, Hong D, Hung P, Janssen I, Jacklin K, Johnson-Stoklossa C, Kemp A, Kirk S, Kuk J, Langlois MF, Lear S, McInnes A, Macklin D, Naji L, Manjoo P, Morin MP, Nerenberg K, Patton I, Pedersen S, Pereira L, Piccinini-Vallis H, Poddar M, Poirier P, Prud'homme D, Salas XR, Rueda-Clausen C, Russell-Mayhew S, Shiau J, Sherifali D, Sievenpiper J, Sockalingam S, Taylor V, Toth E, Twells L, Tytus R, Walji S, Walker L, Wicklum S
CMAJ 2020 Aug 4;192(31):E875-E891. doi: 10.1503/cmaj.191707. PMID: 32753461Free PMC Article
Gibson GR, Hutkins R, Sanders ME, Prescott SL, Reimer RA, Salminen SJ, Scott K, Stanton C, Swanson KS, Cani PD, Verbeke K, Reid G
Nat Rev Gastroenterol Hepatol 2017 Aug;14(8):491-502. Epub 2017 Jun 14 doi: 10.1038/nrgastro.2017.75. PMID: 28611480

Recent clinical studies

Etiology

Radlinski LC, Bäumler AJ
Elife 2022 May 20;11 doi: 10.7554/eLife.79593. PMID: 35593698Free PMC Article
Hwang JL, Weiss RE
Diabetes Metab Res Rev 2014 Feb;30(2):96-102. doi: 10.1002/dmrr.2486. PMID: 24123849Free PMC Article
Smith MI, Yatsunenko T, Manary MJ, Trehan I, Mkakosya R, Cheng J, Kau AL, Rich SS, Concannon P, Mychaleckyj JC, Liu J, Houpt E, Li JV, Holmes E, Nicholson J, Knights D, Ursell LK, Knight R, Gordon JI
Science 2013 Feb 1;339(6119):548-54. Epub 2013 Jan 30 doi: 10.1126/science.1229000. PMID: 23363771Free PMC Article
Ryan EA
Med Clin North Am 1998 Jul;82(4):823-45. doi: 10.1016/s0025-7125(05)70026-2. PMID: 9706123
Oberman A
West J Med 1984 Dec;141(6):864-71. PMID: 6395501Free PMC Article

Diagnosis

Takeuchi T, Kubota T, Nakanishi Y, Tsugawa H, Suda W, Kwon AT, Yazaki J, Ikeda K, Nemoto S, Mochizuki Y, Kitami T, Yugi K, Mizuno Y, Yamamichi N, Yamazaki T, Takamoto I, Kubota N, Kadowaki T, Arner E, Carninci P, Ohara O, Arita M, Hattori M, Koyasu S, Ohno H
Nature 2023 Sep;621(7978):389-395. Epub 2023 Aug 30 doi: 10.1038/s41586-023-06466-x. PMID: 37648852Free PMC Article
Omer A, Quigley EMM
Clin Gastroenterol Hepatol 2018 Aug;16(8):1197-1199. Epub 2018 Feb 6 doi: 10.1016/j.cgh.2018.01.048. PMID: 29425782
Hwang JL, Weiss RE
Diabetes Metab Res Rev 2014 Feb;30(2):96-102. doi: 10.1002/dmrr.2486. PMID: 24123849Free PMC Article
Klein C
Hematology Am Soc Hematol Educ Program 2009:344-50. doi: 10.1182/asheducation-2009.1.344. PMID: 20008220
Br Med J 1971 Aug 26;3(5773):524-5. PMID: 4327680Free PMC Article

Therapy

Greff D, Juhász AE, Váncsa S, Váradi A, Sipos Z, Szinte J, Park S, Hegyi P, Nyirády P, Ács N, Várbíró S, Horváth EM
Reprod Biol Endocrinol 2023 Jan 26;21(1):10. doi: 10.1186/s12958-023-01055-z. PMID: 36703143Free PMC Article
Mereiter S, Balmaña M, Campos D, Gomes J, Reis CA
Cancer Cell 2019 Jul 8;36(1):6-16. doi: 10.1016/j.ccell.2019.06.006. PMID: 31287993
Steinberg GR, Carling D
Nat Rev Drug Discov 2019 Jul;18(7):527-551. doi: 10.1038/s41573-019-0019-2. PMID: 30867601
Kroemer G, López-Otín C, Madeo F, de Cabo R
Cell 2018 Oct 18;175(3):605-614. doi: 10.1016/j.cell.2018.07.044. PMID: 30340032Free PMC Article
Hwang JL, Weiss RE
Diabetes Metab Res Rev 2014 Feb;30(2):96-102. doi: 10.1002/dmrr.2486. PMID: 24123849Free PMC Article

Prognosis

Marais AD, Blom DJ, Raal FJ
S Afr Med J 2023 Jun 21;113(7):6-7. PMID: 37882038
Torresano L, Nuevo-Tapioles C, Santacatterina F, Cuezva JM
Biochim Biophys Acta Mol Basis Dis 2020 May 1;1866(5):165721. Epub 2020 Feb 11 doi: 10.1016/j.bbadis.2020.165721. PMID: 32057942
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
He W, Wei L, Zou Q
Brief Funct Genomics 2018 Jul 22;18(4):220-229. doi: 10.1093/bfgp/ely039. PMID: 30576418
Vogt G, Vogt B, Chuzhanova N, Julenius K, Cooper DN, Casanova JL
Curr Opin Genet Dev 2007 Jun;17(3):245-51. Epub 2007 Apr 30 doi: 10.1016/j.gde.2007.04.008. PMID: 17467977

Clinical prediction guides

Duan H, Zhang X, Figeys D
Proteomics 2023 Feb;23(3-4):e2100389. Epub 2022 Oct 26 doi: 10.1002/pmic.202100389. PMID: 36239139
Radovani B, Gudelj I
Front Immunol 2022;13:893365. Epub 2022 Jun 27 doi: 10.3389/fimmu.2022.893365. PMID: 35833138Free PMC Article
Everest-Dass AV, Moh ESX, Ashwood C, Shathili AMM, Packer NH
Expert Rev Proteomics 2018 Apr;15(4):341-352. Epub 2018 Mar 20 doi: 10.1080/14789450.2018.1448710. PMID: 29521143
Freeze HH, Ng BG
Cold Spring Harb Perspect Biol 2011 Sep 1;3(9):a005371. doi: 10.1101/cshperspect.a005371. PMID: 21709180Free PMC Article
Vogt G, Vogt B, Chuzhanova N, Julenius K, Cooper DN, Casanova JL
Curr Opin Genet Dev 2007 Jun;17(3):245-51. Epub 2007 Apr 30 doi: 10.1016/j.gde.2007.04.008. PMID: 17467977

Recent systematic reviews

Katsagoni CN, Karagianni VM, Papadopoulou A
Nutrients 2023 Jun 10;15(12) doi: 10.3390/nu15122708. PMID: 37375612Free PMC Article
Greff D, Juhász AE, Váncsa S, Váradi A, Sipos Z, Szinte J, Park S, Hegyi P, Nyirády P, Ács N, Várbíró S, Horváth EM
Reprod Biol Endocrinol 2023 Jan 26;21(1):10. doi: 10.1186/s12958-023-01055-z. PMID: 36703143Free PMC Article
Chiavaroli L, Lee D, Ahmed A, Cheung A, Khan TA, Blanco S, Mejia, Mirrahimi A, Jenkins DJA, Livesey G, Wolever TMS, Rahelić D, Kahleová H, Salas-Salvadó J, Kendall CWC, Sievenpiper JL
BMJ 2021 Aug 4;374:n1651. doi: 10.1136/bmj.n1651. PMID: 34348965Free PMC Article
Uusitupa M, Khan TA, Viguiliouk E, Kahleova H, Rivellese AA, Hermansen K, Pfeiffer A, Thanopoulou A, Salas-Salvadó J, Schwab U, Sievenpiper JL
Nutrients 2019 Nov 1;11(11) doi: 10.3390/nu11112611. PMID: 31683759Free PMC Article
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...